ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.639C>T (p.Phe213=)

gnomAD frequency: 0.00011  dbSNP: rs540197003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601684 SCV000731701 benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Phe213Phe in exon 7 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (99/18868) East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs540197003).
Labcorp Genetics (formerly Invitae), Labcorp RCV000941378 SCV001087263 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834955 SCV002093127 likely benign Usher syndrome type 1B 2019-12-10 no assertion criteria provided clinical testing

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